title: Associations of collagen type I α2 polymorphisms with the presence of intracranial aneurysms in patients from Germany.
abstract: OBJECTIVE
  Subarachnoid hemorrhage from ruptured intracranial aneurysms is associated with a severe prognosis. Preventive treatment of unruptured intracranial aneurysms is possible and recommended. However, the identification of risk patients by genetic analyses is not possible because of lack of candidate genes. Collagen type I α2 (COL1A2) has been associated with the presence of aneurysms in patients from Japan, China, and Korea. In this study, we investigate whether COL1A2 is a possible aneurysm candidate gene in the German population.
  
  
  METHODS
  Patients admitted with intracranial aneurysms to our department and collaborating departments were enrolled. Three single-nucleotide polymorphisms (SNPs) of the COL1A2 gene, namely rs42524 in exon 28, rs1800238 in exon 32, and rs2621215 in intron 46 were investigated using restriction enzymes and sequencing. HapMap data were used for comparison of allelic frequencies with the normal population by χ2 test to identify significant associations between genotypes and the presence of aneurysms.
  
  
  RESULTS
  Two hundred sixty-nine patients were enrolled into the study. There was a significant correlation with the presence of aneurysms for the GC allele of the SNP rs42524 in exon 28 (P = .02). The other polymorphisms did not show significant correlations.
  
  
  CONCLUSIONS
  The COL1A2 gene is associated with intracranial aneurysms in a subset of the German population. However, it is not responsible for the majority of aneurysms, and further candidate genes need to be identified to develop sensitive genetic screening for patients at risk.
authors.affiliation: Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany. Electronic address: sven.glaesker@uniklinik-freiburg.de.
authors.forename: Sven
authors.initials: S
authors.lastname: Gläsker
authors.affiliation: Department of Neurosurgery, Hôpitaux Universitaires de Genève, Geneva, Switzerland.
authors.forename: Bawarjan
authors.initials: B
authors.lastname: Schatlo
authors.affiliation: Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany.
authors.forename: Jan-Helge
authors.initials: JH
authors.lastname: Klingler
authors.affiliation: Department of Neurosurgery, Jung-Stilling Hospital, Siegen, Germany.
authors.forename: Veit
authors.initials: V
authors.lastname: Braun
authors.affiliation: Department of Neurosurgery, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Spangenberg
authors.affiliation: Department of Neurosurgery, Dr. Horst Schmidt Hospital, Wiesbaden, Germany.
authors.forename: In-Se
authors.initials: IS
authors.lastname: Kim
authors.affiliation: Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany.
authors.forename: Vera
authors.initials: V
authors.lastname: van Velthoven
authors.affiliation: Department of Neurosurgery, Freiburg University Medical Center, Freiburg, Germany.
authors.forename: Josef
authors.initials: J
authors.lastname: Zentner
authors.affiliation: Department of Internal Medicine, Freiburg University Medical Center, Freiburg, Germany.
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
mesh_terms: D016009:Chi-Square Distribution; D024042:Collagen Type I / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D002532:Intracranial Aneurysm / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D007438:Introns; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D013345:Subarachnoid Hemorrhage / Q000453:epidemiology / Q000235:genetics
chemical_list: D024042:Collagen Type I
keywords: Intracranial aneurysm; collagen; single-nucleotide polymorphism; subarachnoid hemorrhage